Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1047891
rs1047891
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2017 2019
dbSNP: rs7422339
rs7422339
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 2 2010 2016
dbSNP: rs715
rs715
13 1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 0.700 1.000 1 2018 2018